Canonical Allele Identifier: CA425907941

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872301G>C , CM000664.2:g.43872301G>C	GRCh38
NC_000002.11:g.44099440G>C , CM000664.1:g.44099440G>C	GRCh37
NC_000002.10:g.43952944G>C	NCBI36
NG_008884.1:g.38338G>C
NG_008884.2:g.45360G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1206G>C MANE Select	NP_071882.1:p.Leu402=
ENST00000272286.4:c.1206G>C MANE Select	ENSP00000272286.2:p.Leu402=
NM_001357321.1:c.1203G>C	NP_001344250.1:p.Leu401=
NM_001357321.2:c.1203G>C	NP_001344250.1:p.Leu401=
NM_022437.2:c.1206G>C	NP_071882.1:p.Leu402=
ENST00000272286.2:c.1206G>C	ENSP00000272286.2:p.Leu402=
ENST00000644611.1:c.1218G>C	ENSP00000495423.1:p.Leu406=
XM_005264483.2:c.1203G>C	XP_005264540.1:p.Leu401=
XM_011533029.1:c.1218G>C	XP_011531331.1:p.Leu406=
XM_011533029.2:c.1218G>C	XP_011531331.1:p.Leu406=
XM_011533030.1:c.1215G>C	XP_011531332.1:p.Leu405=
XM_011533030.2:c.1215G>C	XP_011531332.1:p.Leu405=
XM_011533031.1:c.990G>C	XP_011531333.1:p.Leu330=
XR_001738891.1:n.1722G>C
XR_939707.1:n.1708G>C
XR_939707.2:n.1722G>C